{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2825624338",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "N",
          "end": 46,
          "referenceAllele": "D",
          "start": 45
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "NP_001120977.1:p.Asp46Asn"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA4651083",
          "hgvs": "NM_001127505.3:c.136G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS152106"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=680100[alleleid]",
        "alleleId": 680100,
        "preferredName": "NM_177924.5(ASAH1):c.88G>A (p.Asp30Asn)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/692296",
        "RCV": [
          "RCV000983934",
          "RCV001164025",
          "RCV000855489"
        ],
        "variationId": 692296
      }
    ]
  },
  "type": "amino-acid"
}